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Entry version 167 (13 Feb 2019)
Sequence version 2 (12 Feb 2003)
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Protein

Translation initiation factor eIF-2B subunit delta

Gene

EIF2B4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionInitiation factor
Biological processProtein biosynthesis

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-72731 Recycling of eIF2:GDP

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q9UI10

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Translation initiation factor eIF-2B subunit delta
Alternative name(s):
eIF-2B GDP-GTP exchange factor subunit delta
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:EIF2B4
Synonyms:EIF2BD
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000115211.15

Human Gene Nomenclature Database

More...
HGNCi
HGNC:3260 EIF2B4

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
606687 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9UI10

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Leukodystrophy with vanishing white matter (VWM)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA leukodystrophy that occurs mainly in children. Neurological signs include progressive cerebellar ataxia, spasticity, inconstant optic atrophy and relatively preserved mental abilities. The disease is chronic-progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. While childhood onset is the most common form of the disorder, some severe forms are apparent at birth. A severe, early-onset form seen among the Cree and Chippewayan populations of Quebec and Manitoba is called Cree leukoencephalopathy. Milder forms may not become evident until adolescence or adulthood. Some females with milder forms of the disease who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy.
See also OMIM:603896
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_068455209R → Q in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994028Ensembl.1
Natural variantiVAR_015405228A → V in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994027EnsemblClinVar.1
Natural variantiVAR_068456269L → R in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994031Ensembl.1
Natural variantiVAR_015407357R → Q in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994033EnsemblClinVar.1
Natural variantiVAR_015408374R → C in VWM. 2 PublicationsCorresponds to variant dbSNP:rs113994035EnsemblClinVar.1
Natural variantiVAR_016843465C → R in VWM; with ovarian failure. 1 PublicationCorresponds to variant dbSNP:rs113994038EnsemblClinVar.1
Natural variantiVAR_016844489Y → H in VWM; with ovarian failure. 1 PublicationCorresponds to variant dbSNP:rs113994040EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Leukodystrophy

Organism-specific databases

DisGeNET

More...
DisGeNETi
8890

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
EIF2B4

MalaCards human disease database

More...
MalaCardsi
EIF2B4
MIMi603896 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000115211

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
157713 Congenital or early infantile CACH syndrome
99854 Cree leukoencephalopathy
157719 Juvenile or adult CACH syndrome
157716 Late infantile CACH syndrome
99853 Ovarioleukodystrophy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA27691

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
EIF2B4

Domain mapping of disease mutations (DMDM)

More...
DMDMi
28381357

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001560672 – 523Translation initiation factor eIF-2B subunit deltaAdd BLAST522

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylalanineCombined sources1
Modified residuei12PhosphoserineCombined sources1
Modified residuei86PhosphothreonineCombined sources1
Modified residuei130PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9UI10

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9UI10

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9UI10

PeptideAtlas

More...
PeptideAtlasi
Q9UI10

PRoteomics IDEntifications database

More...
PRIDEi
Q9UI10

ProteomicsDB human proteome resource

More...
ProteomicsDBi
84448
84449 [Q9UI10-2]
84450 [Q9UI10-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9UI10

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9UI10

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000115211 Expressed in 226 organ(s), highest expression level in lower esophagus muscularis layer

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9UI10 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9UI10 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB032234
HPA039993

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Complex of five different subunits; alpha, beta, gamma, delta and epsilon.

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
114407, 57 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q9UI10

Protein interaction database and analysis system

More...
IntActi
Q9UI10, 23 interactors

Molecular INTeraction database

More...
MINTi
Q9UI10

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000394869

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1523
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6CAJelectron microscopy2.80E/F1-523[»]
6EZOelectron microscopy4.10G/H1-523[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q9UI10

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q9UI10

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1467 Eukaryota
COG1184 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00550000075009

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000176924

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG051459

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9UI10

KEGG Orthology (KO)

More...
KOi
K03680

Database of Orthologous Groups

More...
OrthoDBi
797227at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9UI10

TreeFam database of animal gene trees

More...
TreeFami
TF101508

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR000649 IF-2B-related
IPR037171 NagB/RpiA_transferase-like

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01008 IF-2B, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF100950 SSF100950, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9UI10-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAAVAVAVRE DSGSGMKAEL PPGPGAVGRE MTKEEKLQLR KEKKQQKKKR
60 70 80 90 100
KEEKGAEPET GSAVSAAQCQ VGPTRELPES GIQLGTPREK VPAGRSKAEL
110 120 130 140 150
RAERRAKQEA ERALKQARKG EQGGPPPKAS PSTAGETPSG VKRLPEYPQV
160 170 180 190 200
DDLLLRRLVK KPERQQVPTR KDYGSKVSLF SHLPQYSRQN SLTQFMSIPS
210 220 230 240 250
SVIHPAMVRL GLQYSQGLVS GSNARCIALL RALQQVIQDY TTPPNEELSR
260 270 280 290 300
DLVNKLKPYM SFLTQCRPLS ASMHNAIKFL NKEITSVGSS KREEEAKSEL
310 320 330 340 350
RAAIDRYVQE KIVLAAQAIS RFAYQKISNG DVILVYGCSS LVSRILQEAW
360 370 380 390 400
TEGRRFRVVV VDSRPWLEGR HTLRSLVHAG VPASYLLIPA ASYVLPEVSK
410 420 430 440 450
VLLGAHALLA NGSVMSRVGT AQLALVARAH NVPVLVCCET YKFCERVQTD
460 470 480 490 500
AFVSNELDDP DDLQCKRGEH VALANWQNHA SLRLLNLVYD VTPPELVDLV
510 520
ITELGMIPCS SVPVVLRVKS SDQ
Length:523
Mass (Da):57,557
Last modified:February 12, 2003 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i5F38CF10CAD5A45E
GO
Isoform 2 (identifier: Q9UI10-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-10: MAAVAVAVRE → MPTQQPAAPSTRAPKPSRSLSGSLCALFSDA
     71-71: Missing.

Show »
Length:543
Mass (Da):59,615
Checksum:iC65253AD9431E074
GO
Isoform 3 (identifier: Q9UI10-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     71-71: Missing.

Show »
Length:522
Mass (Da):57,458
Checksum:iD9A7E6FD35CD75F1
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E7ERK9E7ERK9_HUMAN
Translation initiation factor eIF-2...
EIF2B4
544Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087WTA5A0A087WTA5_HUMAN
Translation initiation factor eIF-2...
EIF2B4
520Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8W8L6F8W8L6_HUMAN
Eukaryotic translation initiation f...
EIF2B4
235Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C2L8H7C2L8_HUMAN
Translation initiation factor eIF-2...
EIF2B4
194Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087WW69A0A087WW69_HUMAN
Translation initiation factor eIF-2...
EIF2B4
228Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WEV6F8WEV6_HUMAN
Translation initiation factor eIF-2...
EIF2B4
12Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence CAB57305 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti197S → T in CAB57260 (Ref. 2) Curated1
Sequence conflicti197S → T in CAB57261 (Ref. 2) Curated1
Sequence conflicti197S → T in CAB57304 (Ref. 2) Curated1
Sequence conflicti197S → T in CAB57305 (Ref. 2) Curated1
Sequence conflicti323A → S in AAF17195 (PubMed:10931946).Curated1
Sequence conflicti481S → L in AAF17195 (PubMed:10931946).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04891893A → V. Corresponds to variant dbSNP:rs34155621Ensembl.1
Natural variantiVAR_068455209R → Q in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994028Ensembl.1
Natural variantiVAR_015405228A → V in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994027EnsemblClinVar.1
Natural variantiVAR_068456269L → R in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994031Ensembl.1
Natural variantiVAR_015406306R → G1 PublicationCorresponds to variant dbSNP:rs78599355Ensembl.1
Natural variantiVAR_015407357R → Q in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994033EnsemblClinVar.1
Natural variantiVAR_015408374R → C in VWM. 2 PublicationsCorresponds to variant dbSNP:rs113994035EnsemblClinVar.1
Natural variantiVAR_016843465C → R in VWM; with ovarian failure. 1 PublicationCorresponds to variant dbSNP:rs113994038EnsemblClinVar.1
Natural variantiVAR_016844489Y → H in VWM; with ovarian failure. 1 PublicationCorresponds to variant dbSNP:rs113994040EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0014331 – 10MAAVAVAVRE → MPTQQPAAPSTRAPKPSRSL SGSLCALFSDA in isoform 2. 1 Publication10
Alternative sequenceiVSP_04013071Missing in isoform 2 and isoform 3. 1 Publication1

Sequence databases

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EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AF112207 mRNA Translation: AAF17195.1
AJ011305 mRNA Translation: CAB57260.1
AJ011306 mRNA Translation: CAB57261.1
AJ011307, AJ011308 Genomic DNA Translation: CAB57304.1
AJ011307, AJ011308 Genomic DNA Translation: CAB57305.1 Sequence problems.
AC074117 Genomic DNA Translation: AAY14843.1
CH471053 Genomic DNA Translation: EAX00591.1
BC001870 mRNA Translation: AAH01870.1
BC091502 mRNA Translation: AAH91502.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS33164.1 [Q9UI10-1]
CCDS46244.1 [Q9UI10-3]
CCDS46245.1 [Q9UI10-2]

NCBI Reference Sequences

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RefSeqi
NP_001029288.1, NM_001034116.1 [Q9UI10-1]
NP_001305894.1, NM_001318965.1
NP_001305895.1, NM_001318966.1
NP_001305896.1, NM_001318967.1
NP_001305897.1, NM_001318968.1
NP_056451.3, NM_015636.3 [Q9UI10-3]
NP_751945.2, NM_172195.3 [Q9UI10-2]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.169474

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000347454; ENSP00000233552; ENSG00000115211 [Q9UI10-1]
ENST00000445933; ENSP00000394397; ENSG00000115211 [Q9UI10-3]
ENST00000451130; ENSP00000394869; ENSG00000115211 [Q9UI10-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
8890

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:8890

UCSC genome browser

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UCSCi
uc002rjz.4 human [Q9UI10-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Mendelian genes eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa (EIF2B4)

Leiden Open Variation Database (LOVD)

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF112207 mRNA Translation: AAF17195.1
AJ011305 mRNA Translation: CAB57260.1
AJ011306 mRNA Translation: CAB57261.1
AJ011307, AJ011308 Genomic DNA Translation: CAB57304.1
AJ011307, AJ011308 Genomic DNA Translation: CAB57305.1 Sequence problems.
AC074117 Genomic DNA Translation: AAY14843.1
CH471053 Genomic DNA Translation: EAX00591.1
BC001870 mRNA Translation: AAH01870.1
BC091502 mRNA Translation: AAH91502.1
CCDSiCCDS33164.1 [Q9UI10-1]
CCDS46244.1 [Q9UI10-3]
CCDS46245.1 [Q9UI10-2]
RefSeqiNP_001029288.1, NM_001034116.1 [Q9UI10-1]
NP_001305894.1, NM_001318965.1
NP_001305895.1, NM_001318966.1
NP_001305896.1, NM_001318967.1
NP_001305897.1, NM_001318968.1
NP_056451.3, NM_015636.3 [Q9UI10-3]
NP_751945.2, NM_172195.3 [Q9UI10-2]
UniGeneiHs.169474

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6CAJelectron microscopy2.80E/F1-523[»]
6EZOelectron microscopy4.10G/H1-523[»]
ProteinModelPortaliQ9UI10
SMRiQ9UI10
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114407, 57 interactors
CORUMiQ9UI10
IntActiQ9UI10, 23 interactors
MINTiQ9UI10
STRINGi9606.ENSP00000394869

PTM databases

iPTMnetiQ9UI10
PhosphoSitePlusiQ9UI10

Polymorphism and mutation databases

BioMutaiEIF2B4
DMDMi28381357

Proteomic databases

EPDiQ9UI10
jPOSTiQ9UI10
PaxDbiQ9UI10
PeptideAtlasiQ9UI10
PRIDEiQ9UI10
ProteomicsDBi84448
84449 [Q9UI10-2]
84450 [Q9UI10-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000347454; ENSP00000233552; ENSG00000115211 [Q9UI10-1]
ENST00000445933; ENSP00000394397; ENSG00000115211 [Q9UI10-3]
ENST00000451130; ENSP00000394869; ENSG00000115211 [Q9UI10-2]
GeneIDi8890
KEGGihsa:8890
UCSCiuc002rjz.4 human [Q9UI10-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
8890
DisGeNETi8890
EuPathDBiHostDB:ENSG00000115211.15

GeneCards: human genes, protein and diseases

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GeneCardsi
EIF2B4
GeneReviewsiEIF2B4
HGNCiHGNC:3260 EIF2B4
HPAiCAB032234
HPA039993
MalaCardsiEIF2B4
MIMi603896 phenotype
606687 gene
neXtProtiNX_Q9UI10
OpenTargetsiENSG00000115211
Orphaneti157713 Congenital or early infantile CACH syndrome
99854 Cree leukoencephalopathy
157719 Juvenile or adult CACH syndrome
157716 Late infantile CACH syndrome
99853 Ovarioleukodystrophy
PharmGKBiPA27691

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG1467 Eukaryota
COG1184 LUCA
GeneTreeiENSGT00550000075009
HOGENOMiHOG000176924
HOVERGENiHBG051459
InParanoidiQ9UI10
KOiK03680
OrthoDBi797227at2759
PhylomeDBiQ9UI10
TreeFamiTF101508

Enzyme and pathway databases

ReactomeiR-HSA-72731 Recycling of eIF2:GDP
SIGNORiQ9UI10

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
EIF2B4

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
8890

Protein Ontology

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PROi
PR:Q9UI10

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000115211 Expressed in 226 organ(s), highest expression level in lower esophagus muscularis layer
ExpressionAtlasiQ9UI10 baseline and differential
GenevisibleiQ9UI10 HS

Family and domain databases

InterProiView protein in InterPro
IPR000649 IF-2B-related
IPR037171 NagB/RpiA_transferase-like
PfamiView protein in Pfam
PF01008 IF-2B, 1 hit
SUPFAMiSSF100950 SSF100950, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiEI2BD_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9UI10
Secondary accession number(s): Q53RY7
, Q5BJF4, Q9BUV9, Q9UBG4, Q9UIQ9, Q9UJ95
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: February 12, 2003
Last modified: February 13, 2019
This is version 167 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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